Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway

Publication

Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway

Journal Paper/Review - Apr 10, 2004

Khatami Ramin, Maret Stéphanie, Werth Esther, Rétey Julia, Schmid Dagmar, Maly Friedrich, Tafti Mehdi, Bassetti Claudio L

Citation

Khatami R, Maret S, Werth E, Rétey J, Schmid D, Maly F, Tafti M, Bassetti C. Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway. Lancet 2004; 363:1199-200.

Type

Journal Paper/Review (English)

Journal

Lancet 2004; 363

Publication Date

Apr 10, 2004

Issn Electronic

1474-547X

Pages

1199-200

Brief description/objective

Narcolepsy with cataplexy is thought to be a hypocretin ligand or hypocretin receptor deficiency syndrome caused by genetic and environmental factors. We looked for an abnormality of the hypocretin pathway in HLA-DQB1*0602-positive monozygotic twins who were concordant for narcolepsy-cataplexy. They had normal cerebrospinal fluid concentrations of hypocretin-1, and we found no mutation in the prepro-hypocretin gene or either hypocretin receptor gene. Our finding points to the existence of presumably genetic forms of narcolepsy with cataplexy without any demonstrable defect in the hypocretin pathway.